Definition:
Galactokinase deficiency is also known as GALK deficiency or Galactosemia type 2. This disorder is marked by the accumulation of galactitol and galactose in the body due to the decreased conversion of galactose to galactose-1-phosphate by the enzyme galactokinase.
Diagnosis:
Diagnosis of the disorder is done during newborn screening. This disorder is detected after birth.
Treatment:
The treatment includes restriction of intake of lactose in the diet.
Symptoms and Signs:
One symptom found in affected children is the formation of cataracts. This can present as a failure to visually track moving objects, and a failure to develop a social smile during the normal developmental changes of the baby.
Causes:
This is a congenital disease. This disorder is caused by a deficiency in galactokinase, which is one of the three enzymes found in the Leloir pathway which converts galactose to glucose.
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